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## [1] 0.2399036

Full length STMN2 expression

Truncated STMN2 novel splicing in full dataset

Treat as binary outcome

Plot all junction discovery rates in each condition and tissue

Selected Truncated STMN2 detection rates

ALS and FTLD

ALS/FTLD and ALS/AD

Truncated STMN2 expression levels

Effect of sequencing_platform and/or RIN on Truncated STMN2 detection in ALS-TDP

Effect of library size and full length STMN2 expression on truncated STMN2 discovery in ALS-TDP

Technical factors and STMN2 full-length expression explaining tSTMN2 in FTD-TDP

Truncated STMN2 detection in bulbar and limb onset ALS-TDP

Truncated STMN2 detection in ALS-TDP patients with C9orf72 expansions

Truncated STMN2 detection in FTLD-TDP patients with C9orf72 expansions

## 
##  Fisher's Exact Test for Count Data
## 
## data:  table(stmn2 = ftd_c9$stmn2_data, c9 = ftd_c9$reported_mutations)
## p-value = 1
## alternative hypothesis: true odds ratio is not equal to 1
## 95 percent confidence interval:
##  0.2121109 4.8153877
## sample estimates:
## odds ratio 
##  0.9276436

tSTMN2 detection in ALS-TDP and age of onset and death

In both Cervical and Lumbar Spinal Cord, donors with detectable tSTMN2 have a later age of onset and a shorter length of time with the disease.

What do we make of this? ALS can be a rapidly progressing disease and this is often seen in early onset cases. However lots of early-onset cases have a slowly progressing disease course.

If we are more likely to observe tSTMN2 in cases that had a later disease onset but shorter disease course, what does this mean? Shorter disease course could mean either a more rapid progression or less time for motor neurons to get TDP pathology and die before the patient themselves die, perhaps of complications. We would need more clinical information (staging, measures of decline over time) to properly assess this.

FTLD-TDP - tSTMN2 detection and age at death

Age of disease onset information is not provided for FTLD-TDP samples